ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) (rs200728478)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192832 SCV000248828 uncertain significance not specified 2015-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000192832 SCV000515611 likely benign not specified 2017-08-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000720125 SCV000851002 likely benign History of neurodevelopmental disorder 2016-05-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV001087432 SCV001002311 likely benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000861897 SCV001145510 benign not provided 2019-04-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000861897 SCV001148744 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing

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